Hereditary renal cell carcinoma syndromes: diagnosis, surveillance and management

por Maher, Eamonn R.
Publicado 2018

Epigenetics of renal cell carcinoma: the path towards new diagnostics and therapeutics

por Morris, Mark R, Maher, Eamonn R
Publicado 2010

An imprinted IMAGe: insights into growth regulation through genomic analysis of a rare disease

por Dias, Renuka P, Maher, Eamonn R
Publicado 2012

Analysis of Germline Variants in CDH1, IGFBP3, MMP1, MMP3, STK15 and VEGF in Familial and Sporadic Renal Cell Carcinoma

por Ricketts, Christopher, Zeegers, Maurice P., Lubinski, Jan, Maher, Eamonn R.
Publicado 2009

Molecular Basis of Beckwith–Wiedemann Syndrome Spectrum with Associated Tumors and Consequences for Clinical Practice

por Eggermann, Thomas, Maher, Eamonn R., Kratz, Christian P., Prawitt, Dirk
Publicado 2022

A systematic review assessing the existence of pneumothorax-only variants of FLCN. Implications for lifelong surveillance of renal tumours

por Matsumoto, Kenki, Lim, Derek, Pharoah, Paul D., Maher, Eamonn R., Marciniak, Stefan J.
Publicado 2021

Penetrance estimates for BRCA1 and BRCA2 based on genetic testing in a Clinical Cancer Genetics service setting: Risks of breast/ovarian cancer quoted should reflect the cancer bur...

por Evans, D Gareth, Shenton, Andrew, Woodward, Emma, Lalloo, Fiona, Howell, Anthony, Maher, Eamonn R
Publicado 2008

Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update

por McGuigan, Anthony, Whitworth, James, Andreou, Avgi, Hearn, Timothy, Tischkowitz, Marc, Maher, Eamonn R.
Publicado 2022

A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorption

por Meyer, Esther, Kurian, Manju A., Pasha, Shanaz, Trembath, Richard C., Cole, Trevor, Maher, Eamonn R.
Publicado 2010

MethylCal: Bayesian calibration of methylation levels

por Ochoa, Eguzkine, Zuber, Verena, Fernandez-Jimenez, Nora, Bilbao, Jose Ramon, Clark, Graeme R, Maher, Eamonn R, Bottolo, Leonardo
Publicado 2019

Parity and breast cancer risk among BRCA1 and BRCA2 mutation carriers

por Antoniou, Antonis C, Shenton, Andrew, Maher, Eamonn R, Watson, Emma, Woodward, Emma, Lalloo, Fiona, Easton, Douglas F, Evans, D Gareth
Publicado 2006

OTULIN deficiency in ORAS causes cell type‐specific LUBAC degradation, dysregulated TNF signalling and cell death

por Damgaard, Rune Busk, Elliott, Paul R, Swatek, Kirby N, Maher, Eamonn R, Stepensky, Polina, Elpeleg, Orly, Komander, David, Berkun, Yackov
Publicado 2019

Clinical Practice Guidance: Surveillance for phaeochromocytoma and paraganglioma in paediatric succinate dehydrogenase gene mutation carriers

por Wong, Mei Yin, Andrews, Katrina A., Challis, Benjamin G., Park, Soo‐Mi, Acerini, Carlo L., Maher, Eamonn R., Casey, Ruth T.
Publicado 2019

Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound

por Carss, Keren J., Hillman, Sarah C., Parthiban, Vijaya, McMullan, Dominic J., Maher, Eamonn R., Kilby, Mark D., Hurles, Matthew E.
Publicado 2014

Exome Sequencing for Prenatal Detection of Genetic Abnormalities in Fetal Ultrasound Anomalies: An Economic Evaluation

por Kodabuckus, Shahela S., Quinlan-Jones, Elizabeth, McMullan, Dominic J., Maher, Eamonn R., Hurles, Matthew E., Barton, Pelham M., Kilby, Mark D.
Publicado 2020

Initiation codon mutation in βB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract

por Meyer, Esther, Rahman, Fatimah, Owens, Jessica, Pasha, Shanaz, Morgan, Neil V., Trembath, Richard C., Stone, Edwin M., Moore, Anthony T., Maher, Eamonn R.
Publicado 2009

Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy

por Meyer, Esther, Michaelides, Michel, Tee, Louise J., Robson, Anthony G., Rahman, Fatimah, Pasha, Shanaz, Luxon, Linda M., Moore, Anthony T., Maher, Eamonn R.
Publicado 2010

A legacy of tinnitus: multiple head and neck paragangliomas

por Tan, Tricia M.M, Hatfield, Emma C.I, Thakker, Rajesh V, Maher, Eamonn R, Meeran, Karim, Martin, Niamh M, Turner, Jeremy J
Publicado 2009

Identification of Candidate Tumour Suppressor Genes Frequently Methylated in Renal Cell Carcinoma

por Morris, Mark R., Ricketts, Christopher, Gentle, Dean, Abdulrahman, Mahera, Clarke, Noel, Brown, Michael, Kishida, Takeshi, Yao, Masahiro, Latif, Farida, Maher, Eamonn R
Publicado 2010

Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care

por Eggermann, Thomas, Netchine, Irène, Temple, I Karen, Tümer, Zeynep, Monk, David, Mackay, Deborah, Grønskov, Karin, Riccio, Andrea, Linglart, Agnès, Maher, Eamonn R
Publicado 2015